Online Mendelian Inheritance in Man - NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620083 http://purl.bioontology.org/ontology/OMIM/620083
Preferred Name	NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
Synonyms	NEDCDS
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NEDCDS
prefLabel	NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
Gene Symbol	NEDCDS HNRNPH1 HNRPH1
Scope Statement	Caused by mutation in the heterogeneous nuclear ribonucleoprotein H1 gene (HNRNPH1, 601035.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000248 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU000231 http://purl.bioontology.org/ontology/OMIM/MTHU001150 http://purl.bioontology.org/ontology/OMIM/MTHU021260 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU076301 http://purl.bioontology.org/ontology/OMIM/MTHU005697 http://purl.bioontology.org/ontology/OMIM/MTHU008070 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU001751 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU003365 http://purl.bioontology.org/ontology/OMIM/MTHU076297 http://purl.bioontology.org/ontology/OMIM/MTHU076295 http://purl.bioontology.org/ontology/OMIM/MTHU063758 http://purl.bioontology.org/ontology/OMIM/MTHU008500 http://purl.bioontology.org/ontology/OMIM/MTHU032379 http://purl.bioontology.org/ontology/OMIM/MTHU007066 http://purl.bioontology.org/ontology/OMIM/MTHU076296 http://purl.bioontology.org/ontology/OMIM/MTHU033932 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU005792 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU006299 http://purl.bioontology.org/ontology/OMIM/MTHU002522 http://purl.bioontology.org/ontology/OMIM/MTHU003865 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU076294 http://purl.bioontology.org/ontology/OMIM/MTHU004157 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU031791 http://purl.bioontology.org/ontology/OMIM/MTHU001172 http://purl.bioontology.org/ontology/OMIM/MTHU004589 http://purl.bioontology.org/ontology/OMIM/MTHU036361 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU001151 http://purl.bioontology.org/ontology/OMIM/MTHU036365 http://purl.bioontology.org/ontology/OMIM/MTHU076298 http://purl.bioontology.org/ontology/OMIM/MTHU004166 http://purl.bioontology.org/ontology/OMIM/MTHU002016 http://purl.bioontology.org/ontology/OMIM/MTHU002108 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU004501 http://purl.bioontology.org/ontology/OMIM/MTHU002602 http://purl.bioontology.org/ontology/OMIM/MTHU003604 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU000655 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU007201 http://purl.bioontology.org/ontology/OMIM/MTHU000710 http://purl.bioontology.org/ontology/OMIM/MTHU002159 http://purl.bioontology.org/ontology/OMIM/MTHU049263 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU036440 http://purl.bioontology.org/ontology/OMIM/MTHU007970 http://purl.bioontology.org/ontology/OMIM/MTHU002163 http://purl.bioontology.org/ontology/OMIM/MTHU000604 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU026195 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU036450 http://purl.bioontology.org/ontology/OMIM/MTHU076300 http://purl.bioontology.org/ontology/OMIM/MTHU000189 http://purl.bioontology.org/ontology/OMIM/MTHU004142 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU070668 http://purl.bioontology.org/ontology/OMIM/MTHU011174 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU001677 http://purl.bioontology.org/ontology/OMIM/MTHU002110 http://purl.bioontology.org/ontology/OMIM/MTHU038657 http://purl.bioontology.org/ontology/OMIM/MTHU076299 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	5q35.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620083
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5774235
OMIM Entry Type	3
OMIM MimType Value	pound

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